title: Gaucher disease: assessment of skeletal involvement and therapeutic responses to enzyme replacement.
abstract: The clinical, pathological and radiological manifestations of type 1 Gaucher disease and the role of imaging techniques such as CT, MRI and sulfur-colloid scintigraphy in the management of these patients is discussed. MRI appears to be the most valuable imaging technique for evaluating bone marrow involvement and detecting disease activity. MRI is also useful in assessing therapeutic responses to enzyme replacement therapy.
authors.affiliation: Radiology Department, Mount Sinai Medical Center, New York, NY 10029, USA.
authors.forename: G
authors.initials: G
authors.lastname: Hermann
authors.forename: G M
authors.initials: GM
authors.lastname: Pastores
authors.forename: I F
authors.initials: IF
authors.lastname: Abdelwahab
authors.forename: A M
authors.initials: AM
authors.lastname: Lorberboym
mesh_terms: D000293:Adolescent; D000328:Adult; D001847:Bone Diseases / Q000175:diagnosis* / Q000628:therapy; D001853:Bone Marrow / Q000000981:diagnostic imaging / Q000473:pathology; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology; D002648:Child; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis* / Q000628:therapy; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D011877:Radionuclide Imaging; D011994:Recombinant Proteins / Q000627:therapeutic use; D013156:Splenectomy; D014057:Tomography, X-Ray Computed
chemical_list: D011994:Recombinant Proteins; C070292:alglucerase; D005962:Glucosylceramidase; C090568:imiglucerase